The acronym VACTERL refers to a collection of anomalies that were first identified as occurring together in 1973. Prevalence of this syndrome is around 1/10,000–1/40,000 births and usually occurs sporadically, but there are some examples of familial inheritance. There is a small male preponderance of patients and most of those living with VACTERL were born after 2000 (around 75%) so this is a new and evolving patient group. It occurs across the world, with no increase in any ethnic population.
V = vertebral anomalies
A = anorectal malformations
C = cardiac anomalies
T= tracheo-oesophageal fistula
E = (o)esophageal atresia
R = renal anomalies and radial anomalies
L = limb anomalies
Diagnosis is made if there are three or more of these features without evidence of an alternative diagnosis. (152)
Many born with VACTERL are seen by paediatric teams in childhood but not followed up in adulthood for VACTERL issues, either by single specialties or (ideally) a multidisciplinary team. More children are surviving to adulthood with the syndrome, as treatment has improved for congenital heart defects, OA/TOF and imperforate anus, and many will need lifelong medical input. These patients may also be diagnosed with new anomalies in adulthood. Raam et al. (153) found 40% of adult patients were diagnosed with vertebral anomalies in adulthood, 20% with cardiac anomalies and 20% with renal anomalies.